Transcript #00003084

Transcript name D-2-hydroxyglutarate dehydrogenase
Gene name D2HGDH (D-2-hydroxyglutarate dehydrogenase)
Chromosome 2
Transcript - NCBI ID NM_152783.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689996.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

88 entries on 1 page. Showing entries 1 - 88.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.43C>G r.(?) p.(Arg15Gly)
./. - c.76C>T r.(?) p.(Arg26Trp)
./. - c.107G>T r.(?) p.(Cys36Phe)
./. - c.164G>A r.(?) p.(Arg55Gln)
./. - c.292+9G>A r.(=) p.(=)
./. - c.292+28T>G r.(=) p.(=)
./. - c.292+41G>A r.(=) p.(=)
./. - c.292+82G>A r.(=) p.(=)
./. - c.293-133G>A r.(=) p.(=)
./. - c.293-131G>A r.(=) p.(=)
./. - c.293-98G>A r.(=) p.(=)
./. - c.293-84A>T r.(=) p.(=)
./. - c.293-82A>G r.(=) p.(=)
./. - c.293-73C>T r.(=) p.(=)
./. - c.293-23A>T r.(=) p.(=)
./. - c.293-18A>G r.(=) p.(=)
./. - c.350+31T>G r.(=) p.(=)
./. - c.351-22G>A r.(=) p.(=)
./. - c.490+21G>A r.(=) p.(=)
./. - c.490+40T>C r.(=) p.(=)
./. - c.490+45C>T r.(=) p.(=)
./. - c.685-59C>T r.(=) p.(=)
./. - c.685-9T>C r.(=) p.(=)
./. - c.720C>A r.(=) p.(=)
./. - c.840C>T r.(=) p.(=)
./. - c.853+48G>A r.(=) p.(=)
./. - c.853+66A>G r.(=) p.(=)
./. - c.853+95_853+96insC r.(=) p.(=)
./. - c.853+95_853+96insCC r.(=) p.(=)
./. - c.853+95_853+96insCCC r.(=) p.(=)
./. - c.853+98C>A r.(=) p.(=)
./. - c.853+102G>C r.(=) p.(=)
./. - c.853+104_853+105insCT r.(=) p.(=)
./. - c.853+122G>A r.(=) p.(=)
./. - c.854-1363C>T r.(=) p.(=)
./. - c.854-1323T>G r.(=) p.(=)
./. - c.854-1274C>T r.(=) p.(=)
./. - c.854-1232C>T r.(=) p.(=)
./. - c.854-1200C>T r.(=) p.(=)
./. - c.854-1142G>A r.(=) p.(=)
./. - c.854-1132T>C r.(=) p.(=)
./. - c.854-1124_854-1123insC r.(=) p.(=)
./. - c.854-925C>T r.(=) p.(=)
./. - c.854-894C>T r.(=) p.(=)
./. - c.854-744C>T r.(=) p.(=)
./. - c.854-696T>C r.(=) p.(=)
./. - c.854-640G>A r.(=) p.(=)
./. - c.990G>A r.(=) p.(=)
./. - c.998-133C>T r.(=) p.(=)
./. - c.998-39G>A r.(=) p.(=)
./. - c.1012G>A r.(?) p.(Val338Ile)
./. - c.1063G>A r.(?) p.(Gly355Ser)
./. - c.1066C>T r.(?) p.(His356Tyr)
./. - c.1082C>T r.(?) p.(Ala361Val)
./. - c.1107T>C r.(=) p.(=)
./. - c.1140+8G>A r.(=) p.(=)
./. - c.1140+40G>T r.(=) p.(=)
./. - c.1141-919T>A r.(=) p.(=)
./. - c.1141-876G>A r.(=) p.(=)
./. - c.1141-865C>G r.(=) p.(=)
./. - c.1141-813A>G r.(=) p.(=)
./. - c.1141-682C>A r.(=) p.(=)
./. - c.1141-671C>A r.(=) p.(=)
./. - c.1141-657C>T r.(=) p.(=)
./. - c.1141-632_1141-602del r.(=) p.(=)
./. - c.1141-625_1141-595del r.(=) p.(=)
./. - c.1141-498G>A r.(=) p.(=)
./. - c.1141-367G>T r.(=) p.(=)
./. - c.1141-349A>G r.(=) p.(=)
./. - c.1141-265A>T r.(=) p.(=)
./. - c.1141-238T>C r.(=) p.(=)
./. - c.1141-165T>C r.(=) p.(=)
./. - c.1141-151_1141-113del r.(=) p.(=)
./. - c.1141-120C>T r.(=) p.(=)
./. - c.1141-113T>A r.(=) p.(=)
./. - c.1141-37A>G r.(=) p.(=)
./. - c.1306+68T>C r.(=) p.(=)
./. - c.1307-105T>G r.(=) p.(=)
./. - c.1307-56G>A r.(=) p.(=)
./. - c.1307-24A>G r.(=) p.(=)
./. - c.1307-19T>C r.(=) p.(=)
./. - c.1307-15C>T r.(=) p.(=)
./. - c.1308A>G r.(=) p.(=)
./. - c.1377C>A r.(=) p.(=)
./. - c.1395G>A r.(=) p.(=)
./. - c.1476G>A r.(=) p.(=)
./. - c.*26C>T r.(=) p.(=)
./. - c.*40C>T r.(=) p.(=)
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